Childhood Onset of Friedreich Ataxia: A Clinical and Genetic Study of 36 Cases
Abstract The onset of FRIEDREICH ataxia (FA) was before 10 years of age in 36 out of 95 personally observed patients. We studied the clinical and laboratory findings of these childhood onset patients. Mean onset age ± SD was 6.3 ± 2.4 years. Gait and stance ataxia and lower limb areflexia were const...
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| Veröffentlicht in: | Neuropediatrics 1996-02, Vol.27 (1), p.3-7 |
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| container_title | Neuropediatrics |
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| creator | De Michele, G. Di Maio, L. Filla, A. Majello, M. Cocozza, S. Cavalcanti, F. Mirante1, E. Campanella, G. |
| description | Abstract
The onset of FRIEDREICH ataxia (FA) was before 10 years of age in 36 out of 95 personally observed patients. We studied the clinical and laboratory findings of these childhood onset patients. Mean onset age ± SD was 6.3 ± 2.4 years. Gait and stance ataxia and lower limb areflexia were constant, dysmetria, dysarthria, BABINSKI sign, pes cavus, scoliosis and decreased vibration sense were present in the majority of patients. Higher occurrence of diabetes in childhood onset cases (25 %) was the only statistical difference in comparison with later onset patients. Mean onset age of diabetes was 21.1 ± 6.9 years and all patients required insulin. ECG was abnormal in 72 % of the patients and echocardiographic evidence of hypertrophic cardiomyopathy was found in 43 %. Linkage analysis, performed in 10 families, showed no recombination between the polymorphic markers of the 9q13-21.1 region and the disease locus with a peak lod score of 4.21 at a recombination fraction = 0.00. |
| doi_str_mv | 10.1055/s-2007-973740 |
| format | Article |
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The onset of FRIEDREICH ataxia (FA) was before 10 years of age in 36 out of 95 personally observed patients. We studied the clinical and laboratory findings of these childhood onset patients. Mean onset age ± SD was 6.3 ± 2.4 years. Gait and stance ataxia and lower limb areflexia were constant, dysmetria, dysarthria, BABINSKI sign, pes cavus, scoliosis and decreased vibration sense were present in the majority of patients. Higher occurrence of diabetes in childhood onset cases (25 %) was the only statistical difference in comparison with later onset patients. Mean onset age of diabetes was 21.1 ± 6.9 years and all patients required insulin. ECG was abnormal in 72 % of the patients and echocardiographic evidence of hypertrophic cardiomyopathy was found in 43 %. Linkage analysis, performed in 10 families, showed no recombination between the polymorphic markers of the 9q13-21.1 region and the disease locus with a peak lod score of 4.21 at a recombination fraction = 0.00.</description><identifier>ISSN: 0174-304X</identifier><identifier>EISSN: 1439-1899</identifier><identifier>DOI: 10.1055/s-2007-973740</identifier><identifier>PMID: 8677022</identifier><identifier>CODEN: NRPDDB</identifier><language>eng</language><publisher>Stuttgart: Thieme</publisher><subject>Adult ; Age of Onset ; Biological and medical sciences ; Brain - physiopathology ; Child ; Child, Preschool ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; Electrocardiography ; Electromyography ; Female ; Friedreich Ataxia - diagnosis ; Friedreich Ataxia - physiopathology ; Humans ; Magnetic Resonance Imaging ; Male ; Medical sciences ; Middle Aged ; Neurology ; Original Articles ; Statistics, Nonparametric</subject><ispartof>Neuropediatrics, 1996-02, Vol.27 (1), p.3-7</ispartof><rights>Hippokrates Verlag GmbH Stuttgart</rights><rights>1996 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c354t-d19e846b37612334790e9c4a7dbd9240843b8812b628616b6364de8b74ec7d493</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-2007-973740.pdf$$EPDF$$P50$$Gthieme$$H</linktopdf><link.rule.ids>314,778,782,3006,3007,27907,27908,54542</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3007490$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8677022$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>De Michele, G.</creatorcontrib><creatorcontrib>Di Maio, L.</creatorcontrib><creatorcontrib>Filla, A.</creatorcontrib><creatorcontrib>Majello, M.</creatorcontrib><creatorcontrib>Cocozza, S.</creatorcontrib><creatorcontrib>Cavalcanti, F.</creatorcontrib><creatorcontrib>Mirante1, E.</creatorcontrib><creatorcontrib>Campanella, G.</creatorcontrib><title>Childhood Onset of Friedreich Ataxia: A Clinical and Genetic Study of 36 Cases</title><title>Neuropediatrics</title><addtitle>Neuropediatrics</addtitle><description>Abstract
The onset of FRIEDREICH ataxia (FA) was before 10 years of age in 36 out of 95 personally observed patients. We studied the clinical and laboratory findings of these childhood onset patients. Mean onset age ± SD was 6.3 ± 2.4 years. Gait and stance ataxia and lower limb areflexia were constant, dysmetria, dysarthria, BABINSKI sign, pes cavus, scoliosis and decreased vibration sense were present in the majority of patients. Higher occurrence of diabetes in childhood onset cases (25 %) was the only statistical difference in comparison with later onset patients. Mean onset age of diabetes was 21.1 ± 6.9 years and all patients required insulin. ECG was abnormal in 72 % of the patients and echocardiographic evidence of hypertrophic cardiomyopathy was found in 43 %. Linkage analysis, performed in 10 families, showed no recombination between the polymorphic markers of the 9q13-21.1 region and the disease locus with a peak lod score of 4.21 at a recombination fraction = 0.00.</description><subject>Adult</subject><subject>Age of Onset</subject><subject>Biological and medical sciences</subject><subject>Brain - physiopathology</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Electrocardiography</subject><subject>Electromyography</subject><subject>Female</subject><subject>Friedreich Ataxia - diagnosis</subject><subject>Friedreich Ataxia - physiopathology</subject><subject>Humans</subject><subject>Magnetic Resonance Imaging</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Neurology</subject><subject>Original Articles</subject><subject>Statistics, Nonparametric</subject><issn>0174-304X</issn><issn>1439-1899</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1996</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kE1LAzEURYMoWqtLl0IW4srRZJLmw10ZbBVEFyq4C5nklaZMZzSZAf33prR05-ot7rn3wUHogpJbSiaTu1SUhMhCSyY5OUAjypkuqNL6EI0IlbxghH-eoNOUVoRQrok4RsdKSEnKcoReqmVo_LLrPH5tE_S4W-BZDOAjBLfE097-BHuPp7hqQhucbbBtPZ5DC31w-K0f_O-mwgSubIJ0ho4Wtklwvrtj9DF7eK8ei-fX-VM1fS4cm_C-8FSD4qJmUtCSMS41Ae24lb72uuREcVYrRctalEpQUQsmuAdVSw5Oeq7ZGF1vd79i9z1A6s06JAdNY1vohmRkLk9KRTJYbEEXu5QiLMxXDGsbfw0lZuPPJLPxZ7b-Mn-5Gx7qNfg9vROW86tdblO2sYi2dSHtMZansuKM3WyxfhlgDWbVDbHNQv75-ge-_IIj</recordid><startdate>19960201</startdate><enddate>19960201</enddate><creator>De Michele, G.</creator><creator>Di Maio, L.</creator><creator>Filla, A.</creator><creator>Majello, M.</creator><creator>Cocozza, S.</creator><creator>Cavalcanti, F.</creator><creator>Mirante1, E.</creator><creator>Campanella, G.</creator><general>Thieme</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>19960201</creationdate><title>Childhood Onset of Friedreich Ataxia: A Clinical and Genetic Study of 36 Cases</title><author>De Michele, G. ; Di Maio, L. ; Filla, A. ; Majello, M. ; Cocozza, S. ; Cavalcanti, F. ; Mirante1, E. ; Campanella, G.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c354t-d19e846b37612334790e9c4a7dbd9240843b8812b628616b6364de8b74ec7d493</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1996</creationdate><topic>Adult</topic><topic>Age of Onset</topic><topic>Biological and medical sciences</topic><topic>Brain - physiopathology</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>Electrocardiography</topic><topic>Electromyography</topic><topic>Female</topic><topic>Friedreich Ataxia - diagnosis</topic><topic>Friedreich Ataxia - physiopathology</topic><topic>Humans</topic><topic>Magnetic Resonance Imaging</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Neurology</topic><topic>Original Articles</topic><topic>Statistics, Nonparametric</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>De Michele, G.</creatorcontrib><creatorcontrib>Di Maio, L.</creatorcontrib><creatorcontrib>Filla, A.</creatorcontrib><creatorcontrib>Majello, M.</creatorcontrib><creatorcontrib>Cocozza, S.</creatorcontrib><creatorcontrib>Cavalcanti, F.</creatorcontrib><creatorcontrib>Mirante1, E.</creatorcontrib><creatorcontrib>Campanella, G.</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Neuropediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>De Michele, G.</au><au>Di Maio, L.</au><au>Filla, A.</au><au>Majello, M.</au><au>Cocozza, S.</au><au>Cavalcanti, F.</au><au>Mirante1, E.</au><au>Campanella, G.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Childhood Onset of Friedreich Ataxia: A Clinical and Genetic Study of 36 Cases</atitle><jtitle>Neuropediatrics</jtitle><addtitle>Neuropediatrics</addtitle><date>1996-02-01</date><risdate>1996</risdate><volume>27</volume><issue>1</issue><spage>3</spage><epage>7</epage><pages>3-7</pages><issn>0174-304X</issn><eissn>1439-1899</eissn><coden>NRPDDB</coden><abstract>Abstract
The onset of FRIEDREICH ataxia (FA) was before 10 years of age in 36 out of 95 personally observed patients. We studied the clinical and laboratory findings of these childhood onset patients. Mean onset age ± SD was 6.3 ± 2.4 years. Gait and stance ataxia and lower limb areflexia were constant, dysmetria, dysarthria, BABINSKI sign, pes cavus, scoliosis and decreased vibration sense were present in the majority of patients. Higher occurrence of diabetes in childhood onset cases (25 %) was the only statistical difference in comparison with later onset patients. Mean onset age of diabetes was 21.1 ± 6.9 years and all patients required insulin. ECG was abnormal in 72 % of the patients and echocardiographic evidence of hypertrophic cardiomyopathy was found in 43 %. Linkage analysis, performed in 10 families, showed no recombination between the polymorphic markers of the 9q13-21.1 region and the disease locus with a peak lod score of 4.21 at a recombination fraction = 0.00.</abstract><cop>Stuttgart</cop><pub>Thieme</pub><pmid>8677022</pmid><doi>10.1055/s-2007-973740</doi><tpages>5</tpages></addata></record> |
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| subjects | Adult Age of Onset Biological and medical sciences Brain - physiopathology Child Child, Preschool Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Electrocardiography Electromyography Female Friedreich Ataxia - diagnosis Friedreich Ataxia - physiopathology Humans Magnetic Resonance Imaging Male Medical sciences Middle Aged Neurology Original Articles Statistics, Nonparametric |
| title | Childhood Onset of Friedreich Ataxia: A Clinical and Genetic Study of 36 Cases |
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